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Week 1 Newborn Screening and Genetic Testing Study Guide

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WEEK 1 STUDY GUIDE
CHAPTER 3
Genetic Testing
There are several genetic tests that are selectively used in
the care of the childbearing families. These include:
Carrier testing
• Used to identify individuals who carry one copy of a
gene mutation that, when present in two copies, causes
a genetic disorder.
• Used when there is a family history of a genetic
disorder.
• When both prospective parents are tested, the test can
provide information about their risk of having a child
with a genetic condition.
Preimplantation testing also known as preimplantation
genetic diagnosis (PGD)
• Used to detect genetic changes in embryos that are
created using assisted reproductive techniques.
Prenatal testing
• Allows for the early detection of genetic disorders, such
as trisomy 21, hemophilia, and Tay-Sachs disease.
Newborn screening
• Used to detect genetic disorders that can be treated
early in life.

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